Table 3

Overview of risk of bladder cancer in previous studies

SourcePopulationDesign and methodsData obtained fromStratified by type of mutationRisk of bladder cancer
Bermejo et al18All family members of 5095 families fulfilling the Bethesda criteriaRetrospective; analysis of incidence of cancer, compared to the general populationNationwide Swedish family cancer databaseNoRR=1.06 (95% CI 0.90 to 1.24)
Geary et al16All family members of 130 families with MLH1, MSH2 or MSH6 mutationsRetrospective; analysis of incidence of cancer, compared to the general populationRecords from 6 cancer genetics units in the London regionYes, exclusively for MSH2RR (MSH2)=3.6, p=0.001
Sijmons et al6HNPCC patients and their FDR of 50 familiesRetrospective; analysis of incidence of cancer, compared to the general populationDutch hereditary non-polyposis colorectal cancer registryNoRR=1.52 (95% CI 0.63 to 3.66, p>0.05)
Watson and Lynch9High risk members of 23 HNPCC familiesRetrospective; analysis of incidence of cancer, compared to the general populationContact with family members known at the Hereditary Cancer Institute Creighton and medical recordsNoRR= 1.1 (NS)
Watson et al12MC+PMC and their FDR of 261 families with MLH1 or MSH2 mutationsRetrospective; analysis of incidence of cancer4 Lynch syndrome registries of Denmark. Finland Netherlands and USAYesCR70* overall=2.4% MLH1 (F)=0.7%, (M)=1.6%; MSH2(F)=2.7%, (M)=7.4%
  • * As Watson et al did not report bladder cancer risks, we calculated bladder cancer risks by subtracting CR70 6.0 (UTC risk without bladder cancer) from 8.4 (UTC risk kidney, renal pelvis, ureter, bladder). The same has been done for the MLH1 and MSH2 subgroups.

  • FDR, first degree relative; MC, mutation carrier; PMC, probable mutation carrier; CR, cumulative risk; NS, not significant; F, female; M, male.